Abstracts
Résumé
La génétique moléculaire, après s’être attaqué avec succès aux maladies héréditaires monogéniques, s’est donnée pour objectif d’identifier les déterminants génétiques des maladies fréquentes à composante héréditaire importante. Cela constitue un défi de taille. Nous discuterons les différents aspects méthodologiques et pratiques de l’identification de ces gènes, ainsi que les défis qui attendent la médecine pour utiliser efficacement les nouveaux outils diagnostiques issus de ces travaux.
Summary
Human molecular genetics has successfully identified the genes involved in several monogenic disorders. It now aims at pinpointing the genetic determinants of polygenic or complex traits with a strong genetic component. This constitutes a new challenge. We discuss the methodological and practical aspects of identifying such genes as well as the challenges facing physicians that will have to use efficiently these new diagnostic tools.
Appendices
Références
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